Variant report

Variant	rs4491174
Chromosome Location	chr11:46721605-46721606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:46721270-46723018	HCT-116	colon:	n/a	chr11:46722173-46722188 chr11:46722174-46722187 chr11:46722228-46722237 chr11:46722854-46722878 chr11:46722171-46722185 chr11:46722565-46722574 chr11:46721483-46721497 chr11:46722260-46722270 chr11:46722268-46722277 chr11:46722174-46722187 chr11:46722175-46722185
2	POLR2A	chr11:46721391-46722836	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:46721588-46722942	U87	brain:	n/a	n/a
4	POLR2A	chr11:46721587-46723500	K562	blood:	n/a	n/a
5	HEY1	chr11:46721566-46722789	K562	blood:	n/a	n/a
6	PML	chr11:46721529-46722941	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:46721241-46722977	IMR90	lung:	n/a	n/a
8	SIN3AK20	chr11:46721576-46722956	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:46718992-46723057	HepG2	liver:	n/a	n/a
10	MXI1	chr11:46721163-46723281	SK-N-SH	brain:	n/a	n/a
11	GABPA	chr11:46721454-46723338	MCF-7	breast:	n/a	chr11:46722364-46722371 chr11:46722261-46722270 chr11:46722081-46722090
12	TCF12	chr11:46721570-46723004	A549	lung:	n/a	n/a
13	ELF1	chr11:46721588-46723242	GM12878	blood:	n/a	chr11:46722227-46722240 chr11:46722552-46722563 chr11:46722565-46722576
14	HEY1	chr11:46721590-46722828	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:46721252-46722963	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:46721582-46722991	U87	brain:	n/a	n/a
17	HCFC1	chr11:46721151-46723061	Hela-S3	cervix:	n/a	n/a
18	MTA3	chr11:46721588-46722972	GM12878	blood:	n/a	n/a
19	CBX3	chr11:46721563-46722618	K562	blood:	n/a	n/a
20	MYBL2	chr11:46721574-46722801	HepG2	liver:	n/a	n/a
21	SPI1	chr11:46721575-46722464	GM12891	blood:	n/a	chr11:46722361-46722374 chr11:46722360-46722373
22	MAZ	chr11:46721580-46723249	IMR90	lung:	n/a	chr11:46722260-46722270
23	MYC	chr11:46721564-46722932	A549	lung:	n/a	chr11:46722260-46722270
24	SIN3AK20	chr11:46721595-46723139	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46721576..46722295-chr17:56708607..56709333,2	Hela-S3	cervix:
2	chr11:46637616..46640198-chr11:46720757..46723705,2	MCF-7	breast:
3	chr11:46719334..46721887-chr11:46846857..46848981,2	MCF-7	breast:
4	chr11:46141950..46143787-chr11:46718847..46721759,2	K562	blood:
5	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
6	chr11:46721367..46721954-chr19:3534986..3535510,2	Hela-S3	cervix:
7	chr11:46687606..46689855-chr11:46719361..46722282,2	K562	blood:
8	chr11:46614011..46615570-chr11:46721029..46722872,2	K562	blood:
9	chr11:46714752..46720031-chr11:46720626..46723177,8	MCF-7	breast:
10	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
11	chr11:46721576..46722308-chr3:156892604..156893231,2	Hela-S3	cervix:
12	chr11:46693318..46696713-chr11:46720751..46722986,3	MCF-7	breast:

Variant related genes	Relation type
ARHGAP1	TF binding region
ZNF408	TF binding region
ENSG00000180210	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10838612	0.94[ASN][1000 genomes]
rs11038977	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11602036	0.80[AMR][1000 genomes]
rs11602537	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604876	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574512	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1799867	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070850	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2070851	0.89[ASN][1000 genomes]
rs3136441	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136447	0.89[ASN][1000 genomes]
rs3136449	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136457	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136458	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3136460	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136499	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076557	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4453193	0.83[AMR][1000 genomes]
rs4453194	0.81[AMR][1000 genomes]
rs4534535	0.83[AMR][1000 genomes]
rs4603265	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752927	0.82[ASN][1000 genomes]
rs4752931	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752932	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752933	0.80[AMR][1000 genomes]
rs57704144	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58561056	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58922799	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5896	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61337452	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4491174	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46720400-46721800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:46720600-46722600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:46720800-46721800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:46720800-46722000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:46720800-46722000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:46720800-46722800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:46720800-46723200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:46720800-46723200	Active TSS	Colon Smooth Muscle	Colon
9	chr11:46720800-46723200	Active TSS	NH-A	brain
10	chr11:46720800-46723400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:46720800-46723600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:46721000-46721800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:46721000-46722600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:46721000-46722800	Active TSS	Right Ventricle	heart
15	chr11:46721000-46722800	Active TSS	Stomach Smooth Muscle	stomach
16	chr11:46721000-46723000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:46721000-46723000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:46721000-46723000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:46721000-46723000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:46721000-46723000	Active TSS	Colonic Mucosa	Colon
21	chr11:46721000-46723000	Active TSS	Fetal Brain Female	brain
22	chr11:46721000-46723200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:46721000-46723200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:46721000-46723200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:46721000-46723200	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:46721000-46723200	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:46721000-46723200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:46721000-46723200	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:46721000-46723200	Active TSS	Hela-S3	cervix
30	chr11:46721000-46723200	Active TSS	HSMMtube	muscle
31	chr11:46721000-46723200	Active TSS	Osteobl	bone
32	chr11:46721000-46723400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:46721000-46723400	Active TSS	NHDF-Ad	bronchial
34	chr11:46721000-46723400	Active TSS	NHLF	lung
35	chr11:46721000-46723600	Active TSS	HSMM	muscle
36	chr11:46721000-46723800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:46721200-46721800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr11:46721200-46721800	Active TSS	Brain Germinal Matrix	brain
39	chr11:46721200-46721800	Flanking Active TSS	Fetal Thymus	thymus
40	chr11:46721200-46722000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:46721200-46723000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr11:46721200-46723000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:46721200-46723000	Active TSS	Fetal Stomach	stomach
44	chr11:46721200-46723000	Active TSS	Psoas Muscle	Psoas
45	chr11:46721200-46723200	Active TSS	Aorta	Aorta
46	chr11:46721200-46723200	Active TSS	Fetal Intestine Small	intestine
47	chr11:46721200-46723200	Active TSS	Fetal Kidney	kidney
48	chr11:46721200-46723200	Active TSS	Fetal Lung	lung
49	chr11:46721200-46723200	Active TSS	Stomach Mucosa	stomach
50	chr11:46721200-46723200	Active TSS	A549	lung

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